Incidental Mutation 'IGL01336:Mrps14'
ID74624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps14
Ensembl Gene ENSMUSG00000058267
Gene Namemitochondrial ribosomal protein S14
Synonyms1810032L21Rik, Rpms14
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.916) question?
Stock #IGL01336
Quality Score
Status
Chromosome1
Chromosomal Location160195215-160202170 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 160196995 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 32 (W32*)
Ref Sequence ENSEMBL: ENSMUSP00000120075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078878] [ENSMUST00000097193] [ENSMUST00000135680]
Predicted Effect silent
Transcript: ENSMUST00000078878
Predicted Effect probably null
Transcript: ENSMUST00000097193
AA Change: W26*
SMART Domains Protein: ENSMUSP00000107285
Gene: ENSMUSG00000058267
AA Change: W26*

DomainStartEndE-ValueType
Pfam:Ribosomal_S14 67 121 1.3e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000135680
AA Change: W32*
SMART Domains Protein: ENSMUSP00000120075
Gene: ENSMUSG00000058267
AA Change: W32*

DomainStartEndE-ValueType
Pfam:Ribosomal_S14 74 126 1.6e-24 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,495,910 L599I probably benign Het
Adcyap1 A G 17: 93,203,964 D122G probably benign Het
Ahr A G 12: 35,503,840 V760A probably benign Het
Ankrd7 T C 6: 18,868,278 V133A probably benign Het
Bsn A G 9: 108,111,785 V2256A probably damaging Het
Cblb A G 16: 52,186,229 K765E probably benign Het
Clmp A G 9: 40,782,610 *374W probably null Het
Ddc A G 11: 11,846,630 probably null Het
Dnah10 A G 5: 124,775,512 Y1878C probably damaging Het
Ei24 A G 9: 36,786,481 probably null Het
Gm12394 T A 4: 42,793,784 Q116L possibly damaging Het
Gm8394 T C 10: 85,314,164 noncoding transcript Het
Ikbke A G 1: 131,273,756 M118T probably damaging Het
Il6st T C 13: 112,480,239 S107P possibly damaging Het
Map2k6 A G 11: 110,496,411 Y203C probably damaging Het
Mettl27 C T 5: 134,935,880 probably benign Het
Naaa A C 5: 92,265,133 M208R probably benign Het
Nat2 A G 8: 67,501,541 Y101C probably damaging Het
Ncoa3 A G 2: 166,054,523 S449G probably benign Het
Olfr1507 A G 14: 52,490,748 I72T probably damaging Het
Olfr5 T C 7: 6,480,998 I53V probably benign Het
Phykpl G A 11: 51,599,456 probably benign Het
Rasgrf1 A T 9: 89,991,530 M631L probably benign Het
Rgma G A 7: 73,409,318 V57M possibly damaging Het
Samd4b G T 7: 28,413,963 D192E probably benign Het
Sesn2 T C 4: 132,499,367 T139A probably benign Het
Slc30a6 A G 17: 74,408,839 probably benign Het
Stra8 T C 6: 34,933,188 Y182H possibly damaging Het
Trim31 C A 17: 36,909,377 A395E probably damaging Het
Trp53bp2 G T 1: 182,431,583 R67L probably damaging Het
Trpa1 A C 1: 14,886,880 probably benign Het
Wdr91 G A 6: 34,909,543 probably benign Het
Other mutations in Mrps14
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB001:Mrps14 UTSW 1 160196989 missense probably benign 0.00
BB011:Mrps14 UTSW 1 160196989 missense probably benign 0.00
R1467:Mrps14 UTSW 1 160196950 missense probably benign 0.02
R1467:Mrps14 UTSW 1 160196950 missense probably benign 0.02
R2147:Mrps14 UTSW 1 160195292 missense possibly damaging 0.72
R5560:Mrps14 UTSW 1 160195535 missense probably benign
R7924:Mrps14 UTSW 1 160196989 missense probably benign 0.00
Z1176:Mrps14 UTSW 1 160197027 missense probably benign
Posted On2013-10-07